TSC1 - Wikipedia
WEBTSC1, TSC2 and TBC1D7 is a multi-protein complex also known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a tumor suppressor.
TSC1 Gene - GeneCards | TSC1 Protein | TSC1 Antibody
WEBAug 6, 2024 · TSC1 (TSC Complex Subunit 1) is a Protein Coding gene. Diseases associated with TSC1 include Tuberous Sclerosis 1 and Lymphangioleiomyomatosis. Among its related pathways are MTOR signalling and Gene expression (Transcription). Gene Ontology (GO) annotations related to this gene include binding and protein-folding chaperone binding.
TSC1 gene - MedlinePlus
WEBThe TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and division (proliferation) and cell size.
Role of TSC1 in physiology and diseases - PubMed
WEBTSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and proliferation, survival, autophagy and cilia development by co-operating with …
Role of TSC1 in physiology and diseases - Springer
WEBTSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and proliferation, survival, autophagy and cilia development by co-operating with …
基因检测解读：TSC1和TSC2(结节性硬化病基因) - UpToDate
WEBJul 10, 2024 · 结节性硬化病 (tuberous sclerosis complex, TSC)是一种神经皮肤疾病，由 TSC1 和 TSC2 基因突变所致，患者的许多器官 (包括脑、皮肤和肾脏)存在错构瘤和其他良性肿瘤。. 神经系统表现也较常见，包括孤独症、智力障碍和癫痫。. (参见下文 ‘结节性硬化 …
Tuberous sclerosis complex - Nature Reviews Disease Primers
WEBMay 26, 2016 · Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes:...
Tuberous Sclerosis - StatPearls - NCBI Bookshelf
WEBMay 27, 2024 · Tuberous sclerosis involves mutations in genes TSC1 or TSC2, which are responsible for the production of proteins that regulate cell division and growth in the body. When gene mutations disrupt this balance, hamartomas may grow in the brain, skin, heart, kidney, liver, and lungs, affecting the function of these organs.
Tsc1-mTORC1 signaling controls striatal dopamine release and
WEBNov 28, 2019 · We show that loss of Tsc1 and constitutive activation of mTORC1 in dopamine neurons causes somatodendritic hypertrophy, reduces intrinsic excitability, alters axon terminal structure, and impairs...
Mutation landscape of TSC1/TSC2 in Chinese patients with …
WEBSep 11, 2020 · Our study provides a comprehensive TSC1/TSC2 mutation landscape and reveal some potential risk non-TSCs variants present in patients with NMI.
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